ZFIN ID: ZDB-PERS-070620-1
van Heyningen, Veronica
Email: veronica.vanheyningen@igmm.ed.ac.uk
URL:
Affiliation: Van Heyningen Lab
Address: MRC Human Genetics Unit Western General Hospital Edinburgh, EH4 2XU United Kingdom
Country: United Kingdom
Phone: +44 131 467 8405
Fax: +44 131 467 8456
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Bengani, H., Grozeva, D., Moyon, L., Bhatia, S., Louros, S.R., Hope, J., Jackson, A., Prendergast, J.G., Owen, L.J., Naville, M., Rainger, J., Grimes, G., Halachev, M., Murphy, L.C., Spasic-Boskovic, O., van Heyningen, V., Kind, P., Abbott, C.M., Osterweil, E., Raymond, F.L., Roest Crollius, H., FitzPatrick, D.R. (2021) Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS One. 16:e0256181
Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., García-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Mühlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., van Heyningen, V., Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49(2):238-248
Naville, M., Ishibashi, M., Ferg, M., Bengani, H., Rinkwitz, S., Krecsmarik, M., Hawkins, T.A., Wilson, S.W., Manning, E., Chilamakuri, C.S., Wilson, D.I., Louis, A., Lucy Raymond, F., Rastegar, S., Strähle, U., Lenhard, B., Bally-Cuif, L., van Heyningen, V., FitzPatrick, D.R., Becker, T.S., Roest Crollius, H. (2015) Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. Nature communications. 6:6904
Gordon, C.T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T.Y., Munnich, A., Pennacchio, L.A., Abadie, V., Temple, I.K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D.A., Visel, A., Lyonnet, S. (2014) Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Human Mutation. 35(8):1011-20
Bhatia, S., Monahan, J., Ravi, V., Gautier, P., Murdoch, E., Brenner, S., van Heyningen, V., Venkatesh, B., and Kleinjan, D.A. (2014) A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos. Developmental Biology. 387(2):214-228
Pavlou, S., Astell, K., Kasioulis, I., Gakovic, M., Baldock, R., van Heyningen, V., and Coutinho, P. (2014) Pleiotropic effects of Sox2 during the development of the zebrafish epithalamus. PLoS One. 9(1):e87546
Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M.T., de Marco, R., Damante, G., Grainger, R., van Heyningen, V., Kleinjan, D.A. (2013) Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. American journal of human genetics. 93:1126-34
Ravi, V., Bhatia, S., Gautier, P., Loosli, F., Tay, B.H., Tay, A., Murdoch, E., Coutinho, P., van Heyningen, V., Brenner, S., Venkatesh, B., and Kleinjan, D.A. (2013) Sequencing of pax6 Loci from the elephant shark reveals a family of pax6 genes in vertebrate genomes, forged by ancient duplications and divergences. PLoS Genetics. 9(1):e1003177
Coutinho, P., Pavlou, S., Bhatia, S., Chalmers, K.J., Kleinjan, D.A., and Vanheyningen, V. (2011) Discovery and assessment of conserved Pax6 target genes and enhancers. Genome research. 21(8):1349-59
Ragvin, A., Moro, E., Fredman, D., Navratilova, P., Drivenes, O., Engström, P.G., Alonso, M.E., Mustienes, E.D., Gomez Skarmeta, J.L., Tavares, M.J., Casares, F., Manzanares, M., van Heyningen, V., Molven, A., Njølstad, P.R., Argenton, F., Lenhard, B., and Becker, T.S. (2010) Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proceedings of the National Academy of Sciences of the United States of America. 107(2):775-780
Kleinjan, D.A., Bancewicz, R.M., Gautier, P., Dahm, R., Schonthaler, H.B., Damante, G., Seawright, A., Hever, A.M., Yeyati, P.L., van Heyningen, V., and Coutinho, P. (2008) Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence. PLoS Genetics. 4(2):e29
Yeyati, P.L., Bancewicz, R.M., Maule, J., and van Heyningen, V. (2007) Hsp90 Selectively Modulates Phenotype in Vertebrate Development. PLoS Genetics. 3(3):e43
Asai-Coakwell, M., French, C.R., Berry, K.M., Ye, M., Koss, R., Somerville, M., Mueller, R., van Heyningen, V., Waskiewicz, A.J., and Lehmann, O.J. (2007) GDF6, a novel locus for a spectrum of ocular developmental anomalies. American journal of human genetics. 80(2):306-315
Williamson, K.A., Hever, A.M., Rainger, J., Rogers, R.C., Magee, A., Fiedler, Z., Keng, W.T., Sharkey, F.H., McGill, N., Hill, C.J., Schneider, A., Messina, M., Turnpenny, P.D., Fantes, J.A., van Heyningen, V., and Fitzpatrick, D.R. (2006) Mutations in SOX2 Cause Anophthalmia-Esophageal-Genital (AEG) Syndrome. Human molecular genetics. 15(9):1413-1422

NON-ZEBRAFISH PUBLICATIONS